120 research outputs found
The cognitive profile of type 1 Gaucher disease patients
This is the final version of the article. Available from the publisher via the DOI in this record.BACKGROUND: The absence of neurological symptoms and signs is traditionally considered mandatory for a diagnosis of type 1 Gaucher disease (GD1), but in recent years many reports have emerged on neurological manifestations in GD1 patients. Nevertheless, it has been unclear whether cognitive deficits are part of the disease as well. METHODS: Cognitive function was assessed in a large cohort of GD1 patients with the use of the CDR system, a set of computerised cognitive tests. Testing was performed at baseline and every 6 months thereafter during a two-year study period. RESULTS: Our patient cohort (84 patients, median age 40 years, median time from diagnosis 15 years) showed mild deficits relative to healthy age-matched subjects on the composite scores: power of attention (Z-score (mean ± SD) -0.9 ± 1.37) and speed of memory (Z-score (mean ± SD) -1.39 ± 1.49). No decline in cognitive function was seen during the two-year period. Age correlated with the composite scores variability of attention and quality of working memory. Moreover, severely affected patients (Zimran severity score (SSI) ≥ 15) scored more poorly compared to mildly affected patients (SSI ≤ 5) on the composite measure power of attention, reflecting the ability to concentrate. CONCLUSIONS: GD1 patients exhibit mild deficits in power of attention and speed of memory, reflecting a decreased ability to focus attention and process information, together with a slowing in the speed of retrieval of items from memory. The clinical relevance of these findings is uncertain.This work was supported by Actelion Pharmaceuticals
Ltd, Allschwil, Switzerland. This study was set up under the auspices of the European Working Group on Gaucher Disease (EWGGD).
MB received financial support from Actelion
to conduct her activities related to this study. MB, CEMH, INvS and
AM have received consultancy fees from Actelion for participation in
clinical trial programs and other projects, and CEMH, INvS and AM
have received speaker fees for participation in scientific congresses and
sponsored events. MB and CEMH donate all fees to the Gaucher
Stichting, a national foundation that supports research in the field of
lysosomal storage disorders. Consulting fees for INvS are donated to
the Stichting Klinische Neurologie, a local foundation that supports
research in the field of neurological disorders. DH has received consultancy
fees from Actelion for participation in clinical trials, grants for
local laboratory projects, and speaker fees for participation in scientific
congresses and sponsored events. KEM, PG and LM have received
speaker fees from Actelion for participation in sponsored events. PG
received consultancy fees for participation in local clinical projects.
LM received a travel grant from Actelion and was financially supported
by TÁMOP 4.2.1./B-09/1/KONV-2010-0007 and TÁMOP
4.2.2-08/1-2008-0015. CN got speaker fees for participation in scientific
meetings. KAW was sole shareholder of Cognitive Drug Research
Ltd. Cognitive Drug Research Ltd supplied the CDR System for the
study and received financial support from Actelion. KAW is currently
an employee of United BioSource Corporation (UBC) that owns the
CDR System since August 2009. CL is an employee of Actelion
Pharmaceuticals Ltd. MP and MM report no conflicts of interest
Therapeutic options for chronic inflammatory demyelinating polyradiculoneuropathy: a systematic review
Deterioration after corticosteroids in CIDP may be associated with pure focal demyelination pattern
Fostering appropriate behaviour in rehabilitant orangutans (Pongo pygmaeus)
Rehabilitation centres in Indonesia and Malaysia accommodate displaced orangutans (Pongo pygmaeus and P. abelii) and aim to facilitate their release into the wild by developing in them the skills that are necessary for survival. Regular forest excursions are provided but their efficacy in improving learning of appropriate behaviours is unknown. We observed forty rehabilitating orangutans from the Orangutan Care and Quarantine Centre during three forest excursions each to determine whether their behaviour fostered the development of survival skills. In total 38% of their time was spent in locomotion, particularly quadrupedal arboreal travel (13%), walking (8%), climbing (7%) and vine-swinging (4%). 26.5% of their time was spent 5 m or more from the ground, at heights up to 25 m. Arboreal activities were more 2 common early in the excursions and interaction with c are-givers more common later (hour 1: 0.3% of time; hour 5: 0.9% of time). Animals of lower body weight were significantly more likely to engage in arboreal movement, locomotion in general, eating of bark and leaves, and social play, and less likely to eat insects. Those that had been at the Centre the longest were less likely to perform arboreal activities and significantly more likely to be found standing and at ground level, than those that were there for a shorter time. During this study, many forest food items were consumed, particularly leaves and fruit, but also invertebrates and bark. Little time was spent in sexual behaviour, tool use, nest building or socially-mediated learning, but social play occupied almost 6% of their time. We conclude that regular excursions into the forest are likely to assist in the development of locomotion and feeding skills for survival in rehabilitating orangutans, but special attention is needed to encourage nest building, social activities and arboreal activity. Animals least likely to benefit are heavy animals and those that have been captive for a long time
Clinical and economic comparison of an individualised immunoglobulin protocol vs. standard dosing for chronic inflammatory demyelinating polyneuropathy
Background The clinical and economic implications of an individualised intravenous immunoglobulin (IVIg) protocol for chronic inflammatory demyelinating polyneuropathy (CIDP) are unknown. Comparison with standard dosing regimens has not been performed. Methods We retrospectively studied 47 IVIg-treated subjects with CIDP over 4 years with an individualised, outcome-measured, dose-modifying protocol. We evaluated responder and remission rates, clinical improvement levels and dose requirements. We compared clinical benefits and costs with those reported with standard dosing at 1 g/kg every 3 weeks. Results The IVIg-responder rate was 83% and the 4-year remission rate was 25.6%. Mean IVIg dose requirements were 22.06 g/week (SD:15.29) in patients on ongoing therapy. Dose range was wide (5.83–80 g/week). Mean infusion frequency was every 4.34 weeks (SD:1.70) and infusion duration of 2.79 days (SD:1.15). Mean Overall Neuropathy Limitation Scale improvement was 2.54 (SD:1.89) and mean MRC sum score improvement of 12.23 (SD:7.17) in IVIg-responders. Mean modified-INCAT (Inflammatory Neuropathy Cause and Treatment) score improvement was similar (p = 0.47) and mean MRC sum score improvement greater (p < 0.001) in our cohort, compared to the IVIg-treated arm of the ICE Study. Mean drug costs were GBP 37,660/patient/year (€ 43,309) and mean infusion-related costs of GBP 17,115/patient/year (€ 19,682), totalling GBP 54,775/patient/year (€ 62,991). Compared to standard dosing using recorded weight, mean savings were of GBP 13,506/patient/year (€ 15,532). Compared to standard dosing using dosing weight, savings were of GBP 6,506/patient/year (€ 7,482). Conclusion Our results indicate that an individualised IVIg treatment protocol is clinically non-inferior and 10–25% more cost-effective than standard dosing regimens in CIDP
Famine food of vegetal origin consumed in the Netherlands during World War II
Background: Periods of extreme food shortages during war force people to eat food that they normally do not consider edible. The last time that countries in Western Europe experienced severe scarcities was during World War II. The so-called Dutch famine or Hunger Winter (1944-1945) made at least 25,000 victims. The Dutch government took action by opening soup kitchens and providing information on wild plants and other famine food sources in "wartime cookbooks." The Dutch wartime diet has never been examined from an ethnobotanical perspective. Methods: We interviewed 78 elderly Dutch citizens to verify what they remembered of the consumption of vegetal and fungal famine food during World War II by them and their close surroundings. We asked whether they experienced any adverse effects from consuming famine food plants and how they knew they were edible. We identified plant species mentioned during interviews by their local Dutch names and illustrated field guides and floras. We hypothesized that people living in rural areas consumed more wild species than urban people. A Welch t test was performed to verify whether the number of wild and cultivated species differed between urban and rural citizens. Results: A total number of 38 emergency food species (14 cultivated and 21 wild plants, three wild fungi) were mentioned during interviews. Sugar beets, tulip bulbs, and potato peels were most frequently consumed. Regularly eaten wild species were common nettle, blackberry, and beechnuts. Almost one third of our interviewees explicitly described to have experienced extreme hunger during the war. People from rural areas listed significantly more wild species than urban people. The number of cultivated species consumed by both groups was similar. Negative effects were limited to sore throats and stomachache from the consumption of sugar beets and tulip bulbs. Knowledge on the edibility of famine food was obtained largely by oral transmission; few people remembered the written recipes in wartime cookbooks. Conclusion: This research shows that 71years after the Second World War, knowledge on famine food species, once crucial for people's survival, is still present in the Dutch society. The information on famine food sources supplied by several institutions was not distributed widely. For the necessary revival of famine food knowledge during the 1940s, people needed to consult a small group of elders. Presumed toxicity was a major reason given by our participants to explain why they did not collect wild plants or mushrooms during the war
Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal
To gain insights on the molecular mechanisms
of mutation that led to the emergence of expanded alleles in the MJD gene, by studying the behavior of wild-type alleles and testing the association of its distribution
with the representation of the disease. Methods:
The number of CAG motifs in the MJD gene was determined in a representative sample of 1000 unrelated individuals.
Associations between the repeat size and the
epidemiological representation of MJD were tested. Results:
The allelic profi le of the total sample was in the normal range (13–41 repeats), with mode (CAG) 23 . No intermediate alleles were present. Allelic size distribution showed a negative skew. The correlation between
the epidemiological representation of MJD in each district and the frequency of small, medium and large normal alleles was not signifi cant. Further correlations performed
grouping the districts also failed to produce
signifi cant results. Conclusions: The absence of association between the size of the repeats and the representation of MJD demonstrates that prevalence is not an indirect refl ection of the frequency of large normal alleles.
Globally the results obtained are in accordance with a model that postulates the occurrence of a few mutations on the basis of most of the MJD cases worldwide
EFSA BIOHAZ Panel (EFSA Panel on Biological Hazards), 2013. Scientific Opinion on the maintenance of the list of QPS biological agents intentionally added to food and feed (2013 update)
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